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NPRL3 Gene

protein-coding   GIFtS: 50
GCID: GC16M000134

Nitrogen Permease Regulator-Like 3 (S. Cerevisiae)

(Previous name: chromosome 16 open reading frame 35)
(Previous symbol: C16orf35)
  See NPRL3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nitrogen Permease Regulator-Like 3 (S. Cerevisiae)1 2     Chromosome 16 Open Reading Frame 351
C16orf351 2 3     HS-402
CGTHBA2 3 5     NPR32
Conserved Gene Telomeric To Alpha Globin Cluster1 2     RMD112
Alpha-Globin Regulatory Element-Containing Gene Protein2 3     Nitrogen Permease Regulator 3-Like Protein2
-14 Gene Protein2 3     Protein CGTHBA3
MARE2 3     

External Ids:    HGNC: 141241   Entrez Gene: 81312   Ensembl: ENSG000001031487   OMIM: 6009285   UniProtKB: Q129803   

Export aliases for NPRL3 gene to outside databases

Previous GC identifer: GC16M000054


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NPRL3 Gene:
The function of the encoded protein is not known. (provided by RefSeq, Aug 2011)

GeneCards Summary for NPRL3 Gene:
NPRL3 (nitrogen permease regulator-like 3 (S. cerevisiae)) is a protein-coding gene. Diseases associated with NPRL3 include secondary hypertrophic osteoarthropathy, and myoblastoma. GO annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot: NPRL3_HUMAN, Q12980
Function: As a component of the GATOR1 complex, inhibitor of the amino acid-sensing branch of the TORC1 pathway.
The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers,
thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling

summary for NPRL3 Gene:
Natriuretic peptide (NP) receptors are single transmembrane catalytic receptors with intracellular guanylyl
cyclase activity. There are three isoforms of NP receptors; NPR1, NPR2 and NPR3, which have conserved
catalytic and regulatory domains and divergent ligand binding domains. Natruiretic peptide receptors bind
alpha-atrial natriuretic peptide, brain natriuretic peptide and type C-natriuretic peptide with varying
affinity and are found in the brain, vasculature and kidney. The main physiological role of NP receptors is
in homeostasis of body fluid volume.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NPRL3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NPRL3 promoter sequence
   Search Chromatin IP Primers for NPRL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPRL3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

NPRL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPRL3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M000134:  view genomic region     (about GC identifiers)

Start:
134,273 bp from pter      End:
188,859 bp from pter
Size:
54,587 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NPRL3_HUMAN, Q12980 (See protein sequence)
Recommended Name: Nitrogen permease regulator 3-like protein  
Size: 569 amino acids; 63605 Da
Subunit: Forms a heterodimer with NPRL2. Within the GATOR complex, component of the GATOR1 subcomplex, made of
DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with RRAGA/RRAGC and
RRAGB/RRAGC heterodimers
Caution: Ser-489 is missing in the human genome assembly but is present in all available mRNAs and ESTs
Secondary accessions: D3DU40 Q1W6H0 Q4TT56 Q92469

Explore the universe of human proteins at neXtProt for NPRL3: NX_Q12980

Explore proteomics data for NPRL3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys253, Lys546
  • Modification sites at PhosphoSitePlus

  • See NPRL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001034565.1  NP_001070818.1  NP_001230176.1  NP_001230177.1  NP_001230178.1  

    ENSEMBL proteins: 
     ENSP00000401594   ENSP00000382838   ENSP00000418475   ENSP00000405942   ENSP00000395288  
     ENSP00000401529   ENSP00000399894   ENSP00000382834   ENSP00000382832  

    NPRL3 Human Recombinant Protein Products:

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    Novus Biologicals NPRL3 Protein
    Novus Biologicals NPRL3 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for NPRL3

     
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    NPRL3 Antibody Products:

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    NPRL3 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR005365 NPR3

    Graphical View of Domain Structure for InterPro Entry Q12980

    ProtoNet protein and cluster: Q12980

    1 Blocks protein domain: IPB005365 Protein of unknown function UPF0171

    UniProtKB/Swiss-Prot: NPRL3_HUMAN, Q12980
    Similarity: Belongs to the NPR3 family


    Find genes that share domains with NPRL3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPRL3_HUMAN, Q12980
    Function: As a component of the GATOR1 complex, inhibitor of the amino acid-sensing branch of the TORC1 pathway.
    The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers,
    thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005096GTPase activator activity IEA--
         
    Find genes that share ontologies with NPRL3           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Nprl3):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  muscle  no phenotypic analysis 

    Find genes that share phenotypes with NPRL3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NPRL3: Hba/Nprl3Hba/tm1.1Wgw Hba/Nprl3Hba/tm1Wgw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPRL3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPRL3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPRL3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPRL3

    miRNA
    Products:
        
    miRTarBase miRNAs that target NPRL3:
    hsa-mir-615-3p (MIRT039648), hsa-mir-16-5p (MIRT051275)

    Block miRNA regulation of human, mouse, rat NPRL3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate NPRL3
    SwitchGear 3'UTR luciferase reporter plasmidNPRL3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NPRL3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): NPRL3 (NM_001077350)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPRL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPRL3
    Addgene plasmids for NPRL3 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPRL3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    Find genes that share ontologies with NPRL3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NPRL3
    Interactions:

        Search GeneGlobe Interaction Network for NPRL3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for NPRL3 (Q129801, 3 ENSP000003828344) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPRL2Q8WTW41, 3, ENSP000002325014EBI-2650314,EBI-1043552 I2D: score=2 STRING: ENSP00000232501
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    TP63Q9H3D43, ENSP000002647314I2D: score=1 STRING: ENSP00000264731
    TP73O153503, ENSP000003675454I2D: score=1 STRING: ENSP00000367545
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003281ventricular septum development IEA--
    GO:0008150biological_process ND--
    GO:0035909aorta morphogenesis IEA--
    GO:0048738cardiac muscle tissue development IEA--
    GO:0060021palate development IEA--

    Find genes that share ontologies with NPRL3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for NPRL3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Brain natriuretic peptide (1-32) (human)Endogenous peptide agonist at ANP receptor A (NPR1)[124584-08-3]
    C-type natriuretic peptide (1-22) (human, rat, swine) Endogenous peptide agonist at NPR2[127869-51-6]
    Atrial natriuretic factor (1-28) (human, porcine) Endogenous peptide regulating blood pressure[91917-63-4]
    Atrial natriuretic factor (1-28) (rat)Endogenous peptide regulating blood pressure[88898-17-3]



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NPRL3 gene (6 alternative transcripts): 
    NM_001039476.2  NM_001077350.2  NM_001243247.1  NM_001243248.1  NM_001243249.1  NM_012075.1  

    Unigene Cluster for NPRL3:

    Nitrogen permease regulator-like 3 (S. cerevisiae)
    Hs.19699  [show with all ESTs]
    Unigene Representative Sequence: BX648258
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463178 ENST00000445810 ENST00000428323 ENST00000399957(uc002cfq.3)
    ENST00000405960(uc010uua.1 uc002cfp.2 uc021szl.1 uc002cfr.3)
    ENST00000464069 ENST00000473674 ENST00000483663 ENST00000457916 ENST00000422814
    ENST00000468260 ENST00000456528 ENST00000419636 ENST00000399953 ENST00000399951

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NPRL3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate NPRL3
    SwitchGear 3'UTR luciferase reporter plasmidNPRL3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NPRL3
    Predesigned siRNA for gene silencing in human, mouse, rat NPRL3
    Clone
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    OriGene clones in human, mouse for NPRL3 (see all 11)
    OriGene ORF clones in mouse, rat for NPRL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NPRL3 (NM_001077350)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPRL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPRL3
    Addgene plasmids for NPRL3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NPRL3
    OriGene qSTAR qPCR primer pairs in human, mouse for NPRL3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPRL3
      QuantiTect SYBR Green Assays in human, mouse, rat NPRL3
      QuantiFast Probe-based Assays in human, mouse, rat NPRL3

    Additional mRNA sequence: 

    AK026990.1 AK090717.1 AK294228.1 AK298795.1 AK300736.1 BC004185.2 BC012825.2 BC020392.1 
    BX648258.1 

    Selected DOTS entries (see all 56):

    DT.100780618  DT.451591  DT.95286494  DT.95226846  DT.99948581  DT.100029330  DT.100780620  DT.120688491 
    DT.120688508  DT.120688527  DT.100835167  DT.120688554  DT.92446748  DT.95190909  DT.120688484  DT.120688506 
    DT.120688583  DT.120688594  DT.120688602  DT.120688608  DT.95092525  DT.100687461  DT.100780622  DT.120688488 

    Selected AceView cDNA sequences (see all 293):

    BM753265 BM753056 BE675683 BM692665 CA407829 BG424000 BQ686780 BM723094 
    AI783845 BM753189 AI373213 BG774737 BF434057 BU625713 BE206675 CD368460 
    BQ186896 BI771012 BC020392 BU957262 BM765293 BM772841 BU194080 BE901786 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NPRL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTTGATCAC
    NPRL3 Expression
    About this image


    NPRL3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    NPRL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPRL3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.19699

    UniProtKB/Swiss-Prot: NPRL3_HUMAN, Q12980
    Tissue specificity: Widely expressed

        Custom PCR Arrays for NPRL3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPRL3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NPRL3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nprl31 , 5 nitrogen permease regulator-like 3 (S. cerevisiae)5
    nitrogen permease regulator-like 31
    88.83(n)1
    96.32(a)1
      11 (18.83 cM)5
    171681  NM_001284359.11  NP_001271288.11 
     322256285 
    chicken
    (Gallus gallus)
    Aves NPRL31 nitrogen permease regulator-like 3 (S. cerevisiae) 78.64(n)
    87.48(a)
      416649  XM_003642134.2  XP_003642182.1 
    lizard
    (Anolis carolinensis)
    Reptilia NPRL36
    nitrogen permease regulator-like 3 (S. cerevisiae)...
    85(a)
    1 ↔ 1
    AAWZ02037681(4902-13862)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686242 hypothetical protein MGC68624 79.07(n)    BC059973.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb68d062 Transcribed sequence with moderate similarity to protein more 78.05(n)    CA473972.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87831 CG8783 51.08(n)
    42.21(a)
      39550  NM_168570.1  NP_729945.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nprl-31 nprl-3 39.66(n)
    28.92(a)
      185331  NM_068995.6  NP_501396.1 


    ENSEMBL Gene Tree for NPRL3 (if available)
    TreeFam Gene Tree for NPRL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NPRL3 gene
    1 SIMAP similar gene for NPRL3 using alignment to 8 protein entries:     NPRL3_HUMAN (see all proteins):
    C16orf35

    Find genes that share paralogs with NPRL3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NPRL3 (see all 1501)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1839433941,2
    --75310(+) CACAGA/GATGTC 5 -- ds50010--------
    rs2015413831,2
    C--75349(+) GAGCCT/CAGGGA 5 -- ds50011Minor allele frequency- C:0.00EU 1287
    rs2000835051,2
    --75352(+) CCTAGA/GGAGGC 5 -- ds50010--------
    rs1458240881,2
    C,F--75399(+) CTTGCG/ATCTTG 5 -- ds50011Minor allele frequency- A:0.00NA 4260
    rs1485764481,2
    C--75445(+) CATGCG/ATCAGC 5 -- ds50011Minor allele frequency- A:0.00NA 4474
    rs7691911,2
    C,F,H--75461(+) AGCACC/TCTCCG 5 -- ds50018Minor allele frequency- T:0.00NA NS MN 5542
    rs2009191971,2
    C--75465(+) CCCTCC/G/TGGAAA 5 -- ds50010--------
    rs1435410451,2
    C--75472(+) AAAGG-/CCACCG 5 -- ds50010--------
    rs2002023231,2
    C--75500(+) GACCGC/TGAGCT 5 -- ds50010--------
    rs1463871641,2
    C,F--75588(+) AAGCTG/CTATGG 5 -- ds50011Minor allele frequency- C:0.00NA 4322

    HapMap Linkage Disequilibrium report for NPRL3 (134273 - 188859 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NPRL3 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657149CNV Deletion23128226
    esv2422427CNV Duplication17116639
    esv1304431CNV Insertion17803354
    nsv1697CNV Insertion18451855
    nsv904628CNV Loss21882294
    nsv904631CNV Loss21882294
    dgv2458n71CNV Loss21882294
    nsv904634CNV Loss21882294
    esv32706CNV Loss17666407
    nsv518291CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600928    OMIM disorders: --

    UniProtKB/Swiss-Prot: NPRL3_HUMAN, Q12980
  • Note=Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins are detected
    in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events. Inactivation of GATOR1
    proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks mTORC1 inactivation
    following amino acid withdrawal (PubMed:23723238)

  • 2 diseases for NPRL3:    
    About MalaCards
    secondary hypertrophic osteoarthropathy    myoblastoma

    3 diseases from the University of Copenhagen DISEASES database for NPRL3:
    Thalassemia     Myoblastoma     Secondary hypertrophic osteoarthropathy

    Find genes that share disorders with NPRL3           About GenesLikeMe


    Export disorders for NPRL3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NPRL3 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with NPRL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element. (PubMed id 8575760)1, 2, 3 Vyas P.... Higgs D. (Genomics 1995)
    2. A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex. (PubMed id 19521502)1, 2 Neklesa T.K. and Davis R.W. (PLoS Genet. 2009)
    3. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (PubMed id 16728641)1, 2 De Gobbi M.... Higgs D.R. (Science 2006)
    4. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)
    5. Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. (PubMed id 23446634)1 Chen Z....Reiner A.P. (Hum. Mol. Genet. 2013)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. (PubMed id 23723238)2 Bar-Peled L....Sabatini D.M. (Science 2013)
    8. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. (PubMed id 23263863)1 Li J....Sleiman P.M. (Hum. Mol. Genet. 2013)
    9. Genetic determinants of haemolysis in sickle cell anaemia. (PubMed id 23406172)1 Milton J.N....Steinberg M.H. (Br. J. Haematol. 2013)
    10. Seventy-five genetic loci influencing the human red blood cell. (PubMed id 23222517)1 van der Harst P....Chambers J.C. (Nature 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8131 HGNC: 14124 AceView: C16orf35 Ensembl:ENSG00000103148 euGenes: HUgn8131
    ECgene: NPRL3 H-InvDB: NPRL3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NPRL3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NPRL3 gene:
    Search GeneIP for patents involving NPRL3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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